Multiple endocrine neoplasia type 1

多发性内分泌瘤变 1 型
  • 文章类型: Practice Guideline
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  • 文章类型: Journal Article
    多发性内分泌肿瘤1型(MEN1)患者的临床实践指南推荐了多种监测方案。鉴于过去十年在这一领域取得的进展,评估其持续效用是及时的。MEN1的特征是影响许多内分泌和非内分泌组织的同步或异步肿瘤的发展。导致过早的发病率和死亡率,因此,对高危人群进行监测筛查的理由似乎很有说服力。目前的指南建议采用强化的临床治疗方案,生物化学,和放射学监测从儿童早期开始,对临床或遗传诊断为MEN1的人,目的是早期检测和治疗肿瘤。尽管人们很容易认为这种筛查会带来患者的利益和改善的结果,MEN1护理的几个方面缺乏强有力的证据基础,以及与筛查测试或干预措施有关的潜在医源性危害,做出这样的假设可能是不正确的。此外,密集筛查的心理和经济负担在很大程度上仍未得到研究。尽管筛查无疑是MEN1患者护理的重要组成部分,这一观点旨在强调当前与现有MEN1指南相关的一些不确定性和挑战,特别关注症状前肿瘤筛查的作用.展望未来,我们提倡一种筛查方法,该方法承认这些局限性和不确定性,并将患者置于决策过程的核心.
    Clinical practice guidelines for patients with multiple endocrine neoplasia type 1 (MEN1) recommend a variety of surveillance options. Given progress over the past decade in this area, it is timely to evaluate their ongoing utility. MEN1 is characterized by the development of synchronous or asynchronous tumors affecting a multitude of endocrine and nonendocrine tissues, resulting in premature morbidity and mortality, such that the rationale for undertaking surveillance screening in at-risk individuals appears robust. Current guidelines recommend an intensive regimen of clinical, biochemical, and radiological surveillance commencing in early childhood for those with a clinical or genetic diagnosis of MEN1, with the aim of early tumor detection and treatment. Although it is tempting to assume that such screening results in patient benefits and improved outcomes, the lack of a strong evidence base for several aspects of MEN1 care, and the potential for iatrogenic harms related to screening tests or interventions of unproven benefit, make such assumptions potentially unsound. Furthermore, the psychological as well as economic burdens of intensive screening remain largely unstudied. Although screening undoubtedly constitutes an important component of MEN1 patient care, this perspective aims to highlight some of the current uncertainties and challenges related to existing MEN1 guidelines with a particular focus on the role of screening for presymptomatic tumors. Looking forward, a screening approach that acknowledges these limitations and uncertainties and places the patient at the heart of the decision-making process is advocated.
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  • 文章类型: Journal Article
    The better understanding of the biological behavior of multiple endocrine neoplasia type 1 (MEN1) organ manifestations and the increase in clinical experience warrant a revision of previously published guidelines. Duodenopancreatic neuroendocrine neoplasias (DP-NENs) are still the second most common manifestation in MEN1 and, besides NENs of the thymus, remain a leading cause of death. DP-NENs are thus of main interest in the effort to reevaluate recommendations for their diagnosis and treatment. Especially over the last 2 years, more clinical experience has documented the follow-up of treated and untreated (natural-course) DP-NENs. It was the aim of the international consortium of experts in endocrinology, genetics, radiology, surgery, gastroenterology, and oncology to systematically review the literature and to present a consensus statement based on the highest levels of evidence. Reviewing the literature published over the past decade, the focus was on the diagnosis of F- and NF-DP-NENs within the MEN1 syndrome in an effort to further standardize and improve treatment and follow-up, as well as to establish a \"logbook\" for the diagnosis and treatment of DP-NENs. This shall help further reduce complications and improve long-term treatment results in these rare tumors. The following international consensus statement builds upon the previously published guidelines of 2001 and 2012 and attempts to supplement the recommendations issued by various national and international societies.
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  • 文章类型: Journal Article
    OBJECTIVE: The aim was to provide guidelines for evaluation, treatment, and genetic testing for multiple endocrine neoplasia type 1 (MEN1).
    METHODS: The group, which comprised 10 experts, including physicians, surgeons, and geneticists from international centers, received no corporate funding or remuneration.
    METHODS: Guidelines were developed by reviews of peer-reviewed publications; a draft was prepared, reviewed, and rigorously revised at several stages; and agreed-upon revisions were incorporated.
    CONCLUSIONS: MEN1 is an autosomal dominant disorder that is due to mutations in the tumor suppressor gene MEN1, which encodes a 610-amino acid protein, menin. Thus, the finding of MEN1 in a patient has important implications for family members because first-degree relatives have a 50% risk of developing the disease and can often be identified by MEN1 mutational analysis. MEN1 is characterized by the occurrence of parathyroid, pancreatic islet, and anterior pituitary tumors. Some patients may also develop carcinoid tumors, adrenocortical tumors, meningiomas, facial angiofibromas, collagenomas, and lipomas. Patients with MEN1 have a decreased life expectancy, and the outcomes of current treatments, which are generally similar to those for the respective tumors occurring in non-MEN1 patients, are not as successful because of multiple tumors, which may be larger, more aggressive, and resistant to treatment, and the concurrence of metastases. The prognosis for MEN1 patients might be improved by presymptomatic tumor detection and undertaking treatment specific for MEN1 tumors. Thus, it is recommended that MEN1 patients and their families should be cared for by multidisciplinary teams comprising relevant specialists with experience in the diagnosis and treatment of patients with endocrine tumors.
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  • 文章类型: Journal Article
    Salmonella is one of the most important foodborne pathogens associated with severe diseases in animals and humans. Meat samples are considered as one of the main sources of Salmonella infections. Consequently, the survey of Salmonella contamination in meat samples is of outmost importance for the control and prevention of severe diseases. In this study, 250 meat samples were selected for surveys of Salmonella contaminations. Results indicated that 12% (n=30) of samples tested were positive to Salmonella. The genetic characterization of 30 Salmonella was studied by enterobacterial repetitive intergenic consensus-polymerase chain reaction (ERIC-PCR), and 22 of ERIC-PCR types were found with D of 94.8%. In addition, the resistant characterization was also carried out using nine antibiotics test, and nine resistant patterns were observed with D of 88.7%. A good correlation was also observed between ERIC-PCR fingerprinting and resistant patterns in some Salmonella such as SAL 6 and SAL 7.
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  • 文章类型: Consensus Development Conference
    This is a consensus statement from an international group, mostly of clinical endocrinologists. MEN1 and MEN2 are hereditary cancer syndromes. The commonest tumors secrete PTH or gastrin in MEN1, and calcitonin or catecholamines in MEN2. Management strategies improved after the discoveries of their genes. MEN1 has no clear syndromic variants. Tumor monitoring in MEN1 carriers includes biochemical tests yearly and imaging tests less often. Neck surgery includes subtotal or total parathyroidectomy, parathyroid cryopreservation, and thymectomy. Proton pump inhibitors or somatostatin analogs are the main management for oversecretion of entero-pancreatic hormones, except insulin. The roles for surgery of most entero-pancreatic tumors present several controversies: exclusion of most operations on gastrinomas and indications for surgery on other tumors. Each MEN1 family probably has an inactivating MEN1 germline mutation. Testing for a germline MEN1 mutation gives useful information, but rarely mandates an intervention. The most distinctive MEN2 variants are MEN2A, MEN2B, and familial medullary thyroid cancer (MTC). They vary in aggressiveness of MTC and spectrum of disturbed organs. Mortality in MEN2 is greater from MTC than from pheochromocytoma. Thyroidectomy, during childhood if possible, is the goal in all MEN2 carriers to prevent or cure MTC. Each MEN2 index case probably has an activating germline RET mutation. RET testing has replaced calcitonin testing to diagnose the MEN2 carrier state. The specific RET codon mutation correlates with the MEN2 syndromic variant, the age of onset of MTC, and the aggressiveness of MTC; consequently, that mutation should guide major management decisions, such as whether and when to perform thyroidectomy.
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  • DOI:
    文章类型: Journal Article
    Multiple endocrine neoplasia type 1 (MEN-1) is an autosomal dominantly inherited disorder, characterised by the occurrence of multiple tumours, particularly in the parathyroid glands, the pancreatic islets, the pituitary gland, the adrenal glands, as well as neuroendocrine carcinoid tumours. Since the identification of the responsible gene in 1997, the diagnosis MEN-1 can be assessed easily, and even presymptomatically, by DNA analysis. An early diagnosis is of importance because through periodic clinical monitoring of (putative) MEN1 gene germline mutation carriers, tumour development can be detected and treated at an early stage. Eligible for DNA analysis are MEN-1 patients and their family members, as well as patients with seemingly sporadic MEN-1 related tumours in whom on clinical grounds carriership of a MEN1 gene germline mutation is suspected. Eligible for periodic clinical monitoring are putative and confirmed carriers of a MEN1 germline mutation from the age of 5.
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  • 文章类型: Journal Article
    Multiple endocrine neoplasia syndromes (MEN) encompass autosomal dominantly inherited diseases which are characterized by the syn- or metachrone development of neoplastic and hyperplastic neuroendocrine lesions in several glands of an affected patient. In MEN type 1 the parathyroids, endocrine pancreas and duodenum and the pituitary and in MEN type 2 the thyroid C-cells, adrenal medulla and parathyroids are involved. Due to the recent identification of the mu gene and RET protooncogene as MEN-1 and MEN-2, respectively, and the elucidation of the genetic defects in affected patients, direct mutational analysis of germline DNA allows for the unambiguous identification of gene carriers and therefore the discrimination of MEN-associated and sporadically occurring neuroendocrine tumors. This is especially helpful in the context of the fairly high de novo mutation rates in MEN, since the discrimination of familial and sporadic neuroendocrine lesions by conventional and immunohistochemical analyses is rather unreliable. While the development of neuroendocrine lesions in young patients, bilateral or multicentricer tumors and the combination of hyperplastic and neoplastic lesions are indicative for a MEN syndrome, such constellations may also occur coincidentally or in association with other inherited diseases. In this overview, most recent findings concerning pathogenesis, molecular features, clinics and therapeutic concepts of MEN-1 and 2 are summarized and discussed.
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